General Information of Disease (ID: DISMMGYR)

Disease Name Developmental delay, impaired speech, and behavioral abnormalities
Disease Hierarchy
DISYKSRF: Genetic disease
DISMMGYR: Developmental delay, impaired speech, and behavioral abnormalities
Disease Identifiers
MONDO ID
MONDO_0859178
UMLS CUI
C5561957
OMIM ID
619475
MedGen ID
1794167

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SPTBN1 TTS9BDA Strong Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SPTBN1 OTOVM4D4 Strong Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.